ClinVar Miner

Submissions for variant NM_001493.3(GDI1):c.696C>T (p.Gly232=)

gnomAD frequency: 0.00026  dbSNP: rs146653767
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000192523 SCV000247472 uncertain significance not specified 2014-09-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000930874 SCV001076532 benign not provided 2018-07-23 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000930874 SCV004165159 likely benign not provided 2022-11-01 criteria provided, single submitter clinical testing GDI1: PP3, BS2

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